Canonical Allele Identifier: CA350452154

Gene: BARD1

Linked Data

• dbSNP Id: rs1453151719
• gnomAD v4: 2-214745106-G-T
• MyVariant Identifiers: chr2:g.215609830G>T (hg19) ; chr2:g.214745106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745106G>T , CM000664.2:g.214745106G>T	GRCh38
NC_000002.11:g.215609830G>T , CM000664.1:g.215609830G>T	GRCh37
NC_000002.10:g.215318075G>T	NCBI36
NG_012047.2:g.69599C>A
NG_012047.3:g.69606C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1864C>A MANE Select	ENSP00000260947.4:p.Leu622Ile
ENST00000421162.2:c.511C>A	ENSP00000392245.2:p.Leu171Ile
ENST00000613192.2:c.159-14598C>A	ENSP00000483275.2:n.159-14598C>A
ENST00000613374.5:c.454C>A	ENSP00000484464.1:p.Leu152Ile
ENST00000613706.5:c.1456C>A	ENSP00000484976.2:p.Leu486Ile
ENST00000617164.5:c.1807C>A	ENSP00000480470.1:p.Leu603Ile
ENST00000619009.5:c.365-14598C>A	ENSP00000482293.1:n.365-14598C>A
ENST00000650978.1:c.3239C>A
ENST00000260947.8:c.1864C>A	ENSP00000260947.4:p.Leu622Ile
ENST00000421162.1:c.511C>A	ENSP00000392245.1:p.Leu171Ile
ENST00000455743.5:c.*1484C>A	ENSP00000412186.1:n.*1484C>A
ENST00000613192.1:c.74-14598C>A	ENSP00000483275.1:n.74-14598C>A
ENST00000613374.4:c.454C>A	ENSP00000484464.1:p.Leu152Ile
ENST00000613706.4:c.511C>A	ENSP00000484976.1:p.Leu171Ile
ENST00000617164.4:c.1807C>A	ENSP00000480470.1:p.Leu603Ile
ENST00000619009.4:c.365-14598C>A	ENSP00000482293.1:n.365-14598C>A
ENST00000620057.4:c.*530C>A	ENSP00000481988.1:n.*530C>A
NM_000465.3:c.1864C>A	NP_000456.2:p.Leu622Ile
NM_001282543.1:c.1807C>A	NP_001269472.1:p.Leu603Ile
NM_001282545.1:c.511C>A	NP_001269474.1:p.Leu171Ile
NM_001282548.1:c.454C>A	NP_001269477.1:p.Leu152Ile
NM_001282549.1:c.365-14598C>A	NP_001269478.1:n.365-14598C>A
NR_104212.1:n.1857C>A
NR_104215.1:n.1800C>A
NR_104216.1:n.1056C>A
XM_011511567.1:c.1810C>A	XP_011509869.1:p.Leu604Ile
XM_011511568.1:c.1864C>A	XP_011509870.1:p.Leu622Ile
XM_017004613.1:c.1963C>A	XP_016860102.1:p.Leu655Ile
XM_017004614.1:c.1963C>A	XP_016860103.1:p.Leu655Ile
XR_002959322.1:n.2054C>A
NM_000465.4:c.1864C>A MANE Select	NP_000456.2:p.Leu622Ile
NM_001282543.2:c.1807C>A	NP_001269472.1:p.Leu603Ile
NM_001282545.2:c.511C>A	NP_001269474.1:p.Leu171Ile
NM_001282548.2:c.454C>A	NP_001269477.1:p.Leu152Ile
NM_001282549.2:c.365-14598C>A	NP_001269478.1:n.365-14598C>A
NR_104212.2:n.1829C>A
NR_104215.2:n.1772C>A
NR_104216.2:n.1028C>A